rs121908332, KCNK9

N. diseases: 5
Disease: Peripheral motor neuropathy ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
0.010 GeneticVariation BEFREE Our case suggests that Birk Barel syndrome may not be caused only by variants leading to amino-acid exchange p.Gly236Arg but also by other missense variant in this gene and that peripheral motor neuropathy might be a feature of this syndrome. 30690205 2020